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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan
Author(s) -
Khan MI,
Ajmal M,
Micheal S,
Azam M,
Hussain A,
Shahzad A,
Venselaar H,
Bokhari H,
de Wijs IJ,
Hoefsloot LH,
Waheed NK,
Collin RWJ,
den Hollander AI,
Qamar R,
Cremers FPM
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12039
Subject(s) - disease gene identification , consanguinity , genetics , dystrophy , consanguineous marriage , retinal , biology , medicine , mutation , gene , ophthalmology , exome sequencing